Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2010 May 8:16:813-8.

Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature

M S Al-Dosari  1 , M Almazyad, L Al-Ebdi, J Y Mohamed, Saad Al-Dahmash, Hassan Al-Dhibi, Eman Al-Kahtani, Shahira Al-Turkmani, Hisham Alkuraya, B D Hall, F S Alkuraya
Affiliations
Review

Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature

M S Al-Dosari et al. Mol Vis. .

Abstract

Purpose: To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).

Methods: Full ophthalmological evaluation and direct sequencing of TFAP2A.

Results: A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified.

Conclusions: This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Clinical photographs of the patient. Facial appearance with the typical pseudocleft of the upper lip is shown in A. Microcornea, inferonasal coloboma, and cataract are shown in B and C. Lateral facial profile is shown in D.
Figure 2
Figure 2
A novel mutation in TFAP2A. Sequence chromatogram of the patient is shown in A and B (forward and reverse) and that of her parents in C and D (forward only) with the c.763A>T mutation indicated by a red asterisk. Protein alignment across species in E shows very strong conservation of the R255 residue which is indicated by the red arrow.
Figure 3
Figure 3
Summary of previously reported TFAP2A mutations. A schematic of the TFAP2A gene is shown in A along with the genomic location of previously reported mutations. B and C show two different isoforms of the protein encoded by TFAP2A (AP2) along with the location of previously reported mutations at the protein level. The mutation in the current study is indicated by red asterisk. PG: proline/glutamine rich domain, B: basic DNA binding domain, HSH: helix span helix domain.
See this image and copyright information in PMC

References

    1. Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG. New autosomal dominant branchio-oculo-facial syndrome. Am J Med Genet. 1987;27:943–51. - PubMed
    1. Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, Muller D. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet. 1995;56:42–59. - PubMed
    1. Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJ, Rosenbaum K, Weaver DD, Murray JC. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet. 2000;91:387–90. - PubMed
    1. Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008;82:1171–7. - PMC - PubMed
    1. Bennaceur S, Buisson T, Bertolus C, Couly G. Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus. Cleft Palate Craniofac J. 1998;35:454–9. - PubMed

Substances

LinkOut - more resources